Identification of a Btk mutation in a dysgammaglobulinemic patient with reduced B cells: XLA diagnosis or not?

Simona Graziani, Gigliola Di Matteo, Luigi Benini, Silvia Di Cesare, Maria Chiriaco, Loredana Chini, Marco Chianca, Fosca De Iorio, Maria La Rocca, Roberta Iannini, Stefania Corrente, Paolo Rossi, Viviana Moschese

Research output: Contribution to journalArticlepeer-review


The identification of a Btk mutation in a male patient with <2% CD19+ B cells warrants making the diagnosis of X-linked Agammaglobulinemia (XLA). Herein we report the case of a 31 year-old male with a gradual decline of peripheral B lymphocytes and low IgA and IgM but normal IgG levels. His clinical history revealed recurrent respiratory and skin infections, sclerosing cholangitis and chronic obstructive pancreatitis. Molecular studies revealed a novel aminoacidic substitution in Btk protein (T316A). His mother, maternal aunts and a maternal female cousin were heterozygotes for the same Btk mutation and were variably affected with pulmonary emphysema. This is a puzzling case where the patient's clinical history and laboratory findings divorce molecular genetics. Either this case confirms the variable expressivity of XLA disease or the T316A change in Btk SH2 domain is a novel non-pathogenic mutation and another unknown gene alteration is responsible for the disease.

Original languageEnglish
Pages (from-to)322-328
Number of pages7
JournalClinical Immunology
Issue number3
Publication statusPublished - Sep 2008


  • Btk
  • Chronic obstructive pancreatitis
  • Sclerosing cholangitis
  • XLA

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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